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Primary alveolar hypoventilation

Ondine's curse

Primary alveolar hypoventilation is a rare disorder of unknown cause in which a person does not take enough breaths per minute. The lungs and airways are normal.

Causes

Normally, when the oxygen levels in the blood are low or the carbon dioxide levels are high, there is a signal from the brain to breathe more deeply or more quickly. In people with primary alveolar hypoventilation, this change in breathing does not happen.

The cause of primary alveolar hypoventilation is unknown. Some patients have a specific genetic defect.

The disease mainly affects men 20 to 50 years old, although it may also occur in children.

Symptoms

Symptoms are usually worse during sleep, and periods of apnea (episodes of stopped breathing) are usually present. Often patients themselves do not complain of shortness of breath during the day.

Persons with this disease are extremely sensitive to even small doses of sedatives or narcotics, which can make their already inadequate breathing much worse.

Exams and Tests

The health care provider will perform a physical exam. Tests will be done to rule out other causes. For example, muscular dystrophy can make the rib muscles weak, and emphysema damages the lung tissue itself. A small stroke can affect the breathing center in the brain.

Polysomnography

Treatment

Medications that stimulate the respiratory system may be used but do not always work. Mechanical devices that assist breathing, particularly at night, may be helpful in some patients. Oxygen therapy may be helpful in a few patients, but may cause worse night symptoms in others.

Respiratory

The words "respiratory" and "respiration" refer to the lungs and breathing.